Probing structure-function relationships in missense variants in the carboxy-terminal region of BRCA1

PLoS ONE

Volumn 9, Issue 5, 2014, Pages

  Carvalho, Renato S ^a,b,f   Abreu, Renata B V ^b   Velkova, Aneliya ^a,f   Marsillac, Sylvia ^a   Rodarte, Renato S ^c   Suarez Kurtz, Guilherme ^b   Iversen, Edwin S ^d   Monteiro, Alvaro N A ^a   Carvalho, Marcelo A ^b,e  

^a H LEE MOFFITT CANCER CENTER AND RESEARCH INSTITUTE   (United States)

^b INSTITUTO NACIONAL DE CÂNCER   (Brazil)

^c FEDERAL UNIVERSITY OF ALAGOAS   (Brazil)

^d Duke University   (United States)

^e INSTITUTO FEDERAL DE EDUCAÇÃO   (Brazil)

^f FEDERAL UNIVERSITY OF RIO DE JANEIRO   (Brazil)

Author keywords

[No Author keywords available]

Indexed keywords

BRCA1 PROTEIN;

ARTICLE; CARBOXY TERMINAL SEQUENCE; CONTROLLED STUDY; GENE FUNCTION; GENETIC TRANSCRIPTION; GENETIC VARIABILITY; HUMAN; MISSENSE MUTATION; MOUSE; NONHUMAN; NUCLEOTIDE SEQUENCE; PATHOGENICITY; PHYLOGENY; PROTEIN PHOSPHORYLATION; SEQUENCE ALIGNMENT; SEQUENCE ANALYSIS; STRUCTURE ACTIVITY RELATION; STRUCTURE ANALYSIS; TUMOR SUPPRESSOR GENE; ALLELE; AMINO ACID SUBSTITUTION; BAYES THEOREM; CHEMISTRY; GENETICS; METABOLISM; PROTEIN DOMAIN; THERMODYNAMICS;

ALLELES; AMINO ACID SUBSTITUTION; BAYES THEOREM; BRCA1 PROTEIN; CONSERVED SEQUENCE; HUMANS; MUTATION, MISSENSE; PROTEIN INTERACTION DOMAINS AND MOTIFS; STRUCTURE-ACTIVITY RELATIONSHIP; THERMODYNAMICS;

EID: 84901302217     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0097766     Document Type: Article

References (37)

1. Mavaddat N, Antoniou AC, Easton DF, Garcia-Closas M (2010) Genetic susceptibility to breast cancer. Mol Oncol 4: 174-191.
2. Couch FJ, Nathanson KL, Offit K (2014) Two decades after BRCA: setting paradigms in personalized cancer care and prevention. Science 343: 1466-1470.
3. Evans DG, Shenton A, Woodward E, Lalloo F, Howell A, et al. (2008) Penetrance estimates for BRCA1 and BRCA2 based on genetic testing in a Clinical Cancer Genetics service setting: risks of breast/ovarian cancer quoted should reflect the cancer burden in the family. BMC Cancer 8: 155.
4. Chen S, Iversen ES, Friebel T, Finkelstein D, Weber BL, et al. (2006) Characterization of BRCA1 and BRCA2 mutations in a large United States sample. J Clin Oncol 24: 863-871. (Pubitemid 46638837)
5. Frank TS, Deffenbaugh AM, Reid JE, Hulick M, Ward BE, et al. (2002) Clinical characteristics of individuals with germline mutations in BRCA1 and BRCA2: analysis of 10,000 individuals. Journal of Clinical Oncology 20: 1480-1490. (Pubitemid 34260526)
6. Frank TS, Manley SA, Olopade OI, Cummings S, Garber JE, et al. (1998) Sequence analysis of BRCA1 and BRCA2: correlation of mutations with family history and ovarian cancer risk. J Clin Oncol 16: 2417-2425. (Pubitemid 28309036)
7. Jackson SA, Davis AA, Li J, Yi N, McCormick SR, et al. (2014) Characteristics of individuals with breast cancer rearrangements in BRCA1 and BRCA2. Cancer doi: 10.1002/cncr.28577.
8. Concolino P, Mello E, Minucci A, Santonocito C, Scambia G, et al. (2014) Advanced tools for BRCA1/2 mutational screening: comparison between two methods for large genomic rearrangements (LGRs) detection. Clin Chem Lab Med doi: 10.1515/cclm-2013-1114.
9. Smith SA, Easton DF, Evans DG, Ponder BA (1992) Allele losses in the region 17q12-21 in familial breast and ovarian cancer involve the wild-type chromosome. Nat Genet 2: 128-131.
10. Spurdle AB, Healey S, Devereau A, Hogervorst FB, Monteiro AN, et al. (2011) ENIGMA-Evidence-based network for the interpretation of germline mutant alleles: An international initiative to evaluate risk and clinical significance associated with sequence variation in BRCA1 and BRCA2 genes. Hum Mutat.
11. Millot GA, Carvalho MA, Caputo SM, Vreeswijk MP, Brown MA, et al. (2012) A guide for functional analysis of BRCA1 variants of uncertain significance. Hum Mutat 33: 1526-1537.
12. Carvalho MA, Couch FJ, Monteiro AN (2007) Functional assays for BRCA1 and BRCA2. Int J Biochem Cell Biol 39: 298-310. (Pubitemid 44855653)
13. Abkevich V, Zharkikh A, Deffenbaugh AM, Frank D, Chen Y, et al. (2004) Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation. J Med Genet 41: 492-507. (Pubitemid 38932109)
14. Tavtigian SV, Byrnes GB, Goldgar DE, Thomas A (2008) Classification of rare missense substitutions, using risk surfaces, with genetic- and molecular-epidemiology applications. Human Mutation 29: 1342-1354.
15. Williams RS, Green R, Glover JN (2001) Crystal structure of the BRCT repeat region from the breast cancer- associated protein BRCA1. Nat StructBiol 8: 838-842. (Pubitemid 32923600)
16. Vallon-Christersson J, Cayanan C, Haraldsson K, Loman N, Bergthorsson JT, et al. (2001) Functional analysis of BRCA1 C-terminal missense mutations identified in breast and ovarian cancer families. Human Molecular Genetics 10: 353-360. (Pubitemid 32166546)
17. Lee MS, Green R, Marsillac SM, Coquelle N, Williams RS, et al. (2010) Comprehensive analysis of missense variations in the BRCT domain of BRCA1 by structural and functional assays. Cancer Res 70: 4880-4890.
18. Iversen ES, Couch FJ, Goldgar DE, Tavtigian SV, Monteiro ANA (2011) A Computational Method to Classify Variants of Uncertain Significance Using Functional Assay Data with Application to BRCA1. Cancer Epidemiology Biomarkers & Prevention 20: 1078-1088.
19. Carvalho MA, Marsillac SM, Karchin R, Manoukian S, Grist S, et al. (2007) Determination of cancer risk associated with germ line BRCA1 missense variants by functional analysis. Cancer Res 67: 1494-1501. (Pubitemid 46383373)
20. Ouchi T (2006) BRCA1 phosphorylation: biological consequences. Cancer Biol Ther 5: 470-475.
21. Worley T, Vallon-Christersson J, Billack B, Borg A, Monteiro AN (2002) A naturally occurring allele of BRCA1 coding for a temperature-sensitive mutant protein. Cancer Biol Ther 1: 497-501.
22. Phelan CM, Dapic V, Tice B, Favis R, Kwan E, et al. (2005) Classification of BRCA1 missense variants of unknown clinical significance. J Med Genet 42: 138-146. (Pubitemid 40204368)
23. Johnson D (2003) PCR: A practical approach; Press I, editor. Oxford: IRL Press.
24. Hayes F, Cayanan C, Barilla D, Monteiro AN (2000) Functional assay for BRCA1: mutagenesis of the COOH-terminal region reveals critical residues for transcription activation. Cancer Res 60: 2411-2418. (Pubitemid 30262431)
25. Tomlinson GE, Chen TT, Stastny VA, Virmani AK, Spillman MA, et al. (1998) Characterization of a breast cancer cell line derived from a germ-line BRCA1 mutation carrier. Cancer Res 58: 3237-3242. (Pubitemid 28371058)
26. Mirkovic N, Marti-Renom MA, Weber BL, Sali A, Monteiro AN (2004) Structure-based assessment of missense mutations in human BRCA1: implications for breast and ovarian cancer predisposition. Cancer Res 64: 3790-3797. (Pubitemid 38701757)
27. Monteiro AN, August A, Hanafusa H (1996) Evidence for a transcriptional activation function of BRCA1 C-terminal region. ProcNatlAcadSciUSA 93: 13595-13599. (Pubitemid 26424164)
28. Chapman MS, Verma IM (1996) Transcriptional activation by BRCA1. Nature 382: 678-679. (Pubitemid 26282163)
29. Malander S, Ridderheim M, Masback A, Loman N, Kristoffersson U, et al. (2004) One in 10 ovarian cancer patients carry germ line BRCA1 or BRCA2 mutations: results of a prospective study in Southern Sweden. Eur J Cancer 40: 422-428. (Pubitemid 38121280)
30. Sy SM, Huen MS, Chen J (2009) PALB2 is an integral component of the BRCA complex required for homologous recombination repair. Proc Natl Acad Sci U S A 106: 7155-7160.
31. Gatei M, Scott SP, Filippovitch I, Soronika N, Lavin MF, et al. (2000) Role for ATM in DNA damage-induced phosphorylation of BRCA1. Cancer Res 60: 3299-3304. (Pubitemid 30407930)
32. Okada S, Ouchi T (2003) Cell cycle differences in DNA damage-induced BRCA1 phosphorylation affect its subcellular localization. J Biol Chem 278: 2015-2020. (Pubitemid 36801444)
33. Matsuoka S, Ballif BA, Smogorzewska A, McDonald ER, III, Hurov KE, et al. (2007) ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage. Science 316: 1160-1166. (Pubitemid 46877472)
34. Tram E, Savas S, Ozcelik H (2013) Missense Variants of Uncertain Significance (VUS) Altering the Phosphorylation Patterns of BRCA1 and BRCA2. PLoS One 8: e62468.
35. Plon SE, Eccles DM, Easton D, Foulkes WD, Genuardi M, et al. (2008) Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results. Hum Mutat 29: 1282-1291.
36. Easton DF, Deffenbaugh AM, Pruss D, Frye C, Wenstrup RJ, et al. (2007) A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes. AmJ HumGenet 81: 873-883. (Pubitemid 47580242)
37. Goldgar DE, Easton DF, Byrnes GB, Spurdle AB, Iversen ES, et al. (2008) Genetic evidence and integration of various data sources for classifying uncertain variants into a single model. Hum Mutat 29: 1265-1272.